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The C282Y mutation in the haemochromatosis gene (HFE) and hepatitis C virus infection are independent cofactors for porphyria cutanea tarda in Australian patients.
J Hepatol. 1998 Mar; 28(3):404-9.JH

Abstract

BACKGROUND/AIM

Whether mutations in the putative haemochromatosis gene (HFE) and hepatitis C virus act independently to precipitate porphyria cutanea tarda is unknown. The aim of the study was to investigate the relationship between mutations in HFE, hepatitis C and porphyria cutanea tarda.

METHODS

The frequencies of the C282Y and H63D mutations in HFE were determined in 27 patients with porphyria cutanea tarda and compared with the reported control frequencies. In addition, the presence of hepatitis C virus infection was identified and related to the patients' HFE status.

RESULTS

The C282Y mutation was found in 44.4% of patients compared with the control frequency of 12% (p<0.001). Three patients were homozygous for the C282Y mutation, two of whom did not meet current clinical diagnostic criteria for expressed haemochromatosis. The proportion of patients with the H63D mutation did not differ from the reported control frequency. The mean transferrin saturation and serum ferritin concentration were similar in porphyria cutanea tarda patients who were homozygous normal and heterozygous for the C282Y mutation, but greater in both groups than previously reported in healthy controls. Seven (25.9%) patients were anti-HCV IgG positive. None of these patients carried the C282Y mutation. Porphyria cutanea tarda patients heterozygous for the C282Y mutation and patients with anti-HCV antibodies had elevated transferrin saturations and serum ferritin concentrations.

CONCLUSIONS

The raised frequency of the C282Y mutation in porphyria cutanea tarda indicates that this mutation is likely to be a predisposing factor. However, abnormalities of iron indices also exist in porphyria cutanea tarda patients without mutations in HFE. Hepatitis C virus infection is likely to be another common precipitating factor for porphyria cutanea tarda which acts independently of the C282Y mutation.

Authors+Show Affiliations

Department of Gastroenterology, The Royal Brisbane Hospital, Australia.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

9551677

Citation

Stuart, K A., et al. "The C282Y Mutation in the Haemochromatosis Gene (HFE) and Hepatitis C Virus Infection Are Independent Cofactors for Porphyria Cutanea Tarda in Australian Patients." Journal of Hepatology, vol. 28, no. 3, 1998, pp. 404-9.
Stuart KA, Busfield F, Jazwinska EC, et al. The C282Y mutation in the haemochromatosis gene (HFE) and hepatitis C virus infection are independent cofactors for porphyria cutanea tarda in Australian patients. J Hepatol. 1998;28(3):404-9.
Stuart, K. A., Busfield, F., Jazwinska, E. C., Gibson, P., Butterworth, L. A., Cooksley, W. G., Powell, L. W., & Crawford, D. H. (1998). The C282Y mutation in the haemochromatosis gene (HFE) and hepatitis C virus infection are independent cofactors for porphyria cutanea tarda in Australian patients. Journal of Hepatology, 28(3), 404-9.
Stuart KA, et al. The C282Y Mutation in the Haemochromatosis Gene (HFE) and Hepatitis C Virus Infection Are Independent Cofactors for Porphyria Cutanea Tarda in Australian Patients. J Hepatol. 1998;28(3):404-9. PubMed PMID: 9551677.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The C282Y mutation in the haemochromatosis gene (HFE) and hepatitis C virus infection are independent cofactors for porphyria cutanea tarda in Australian patients. AU - Stuart,K A, AU - Busfield,F, AU - Jazwinska,E C, AU - Gibson,P, AU - Butterworth,L A, AU - Cooksley,W G, AU - Powell,L W, AU - Crawford,D H, PY - 1998/4/29/pubmed PY - 1998/4/29/medline PY - 1998/4/29/entrez SP - 404 EP - 9 JF - Journal of hepatology JO - J. Hepatol. VL - 28 IS - 3 N2 - BACKGROUND/AIM: Whether mutations in the putative haemochromatosis gene (HFE) and hepatitis C virus act independently to precipitate porphyria cutanea tarda is unknown. The aim of the study was to investigate the relationship between mutations in HFE, hepatitis C and porphyria cutanea tarda. METHODS: The frequencies of the C282Y and H63D mutations in HFE were determined in 27 patients with porphyria cutanea tarda and compared with the reported control frequencies. In addition, the presence of hepatitis C virus infection was identified and related to the patients' HFE status. RESULTS: The C282Y mutation was found in 44.4% of patients compared with the control frequency of 12% (p<0.001). Three patients were homozygous for the C282Y mutation, two of whom did not meet current clinical diagnostic criteria for expressed haemochromatosis. The proportion of patients with the H63D mutation did not differ from the reported control frequency. The mean transferrin saturation and serum ferritin concentration were similar in porphyria cutanea tarda patients who were homozygous normal and heterozygous for the C282Y mutation, but greater in both groups than previously reported in healthy controls. Seven (25.9%) patients were anti-HCV IgG positive. None of these patients carried the C282Y mutation. Porphyria cutanea tarda patients heterozygous for the C282Y mutation and patients with anti-HCV antibodies had elevated transferrin saturations and serum ferritin concentrations. CONCLUSIONS: The raised frequency of the C282Y mutation in porphyria cutanea tarda indicates that this mutation is likely to be a predisposing factor. However, abnormalities of iron indices also exist in porphyria cutanea tarda patients without mutations in HFE. Hepatitis C virus infection is likely to be another common precipitating factor for porphyria cutanea tarda which acts independently of the C282Y mutation. SN - 0168-8278 UR - https://www.unboundmedicine.com/medline/citation/9551677/The_C282Y_mutation_in_the_haemochromatosis_gene__HFE__and_hepatitis_C_virus_infection_are_independent_cofactors_for_porphyria_cutanea_tarda_in_Australian_patients_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0168-8278(98)80313-9 DB - PRIME DP - Unbound Medicine ER -